RNA sequencing to support intronic variant interpretation: A case report of TRAPPC12-related disorder

Affiliations

• ¹ Regional Genetics Program, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.
• ² University of Ottawa, Ottawa, Ontario, Canada.
• ³ Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.
• ⁴ Centre for Computational Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada.
• ⁵ Department of Medical Imaging, The Hospital for Sick Children, Toronto, Ontario, Canada.
• ⁶ University of Toronto, Toronto, Ontario, Canada.
• ⁷ The Fred A. Litwin Family Centre in Genetic Medicine, University Health Network, Department of Medicine, University of Toronto, Toronto, Ontario, Canada.
• ⁸ Newborn Screening Ontario, Ottawa, Ontario, Canada.